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FANCC (human)

Overview FANCC DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. Defects in FANCC are the cause of Fanconi anemia complementation group C (FANCC). A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Note: This description may include information from UniProtKB. Cellular Component: nucleoplasm; cytoplasm; chromatin; nucleus; cytosol Molecular Function: protein binding Biological Process: removal of superoxide radicals; nucleotide-excision repair; myeloid cell homeostasis; protein complex assembly; DNA repair; germ cell development Reference #:  Q00597 (UniProtKB) Alt. Names/Synonyms: bA80I15.1 (Fanconi anemia, complementation group C, protein); FA3; FAC; FACC; FANCC; Fanconi anemia group C protein; Fanconi anemia, complementation group C; FLJ14675; Protein FACC Gene Symbols: FANCC Molecular weight: 63,429 Da Basal Isoelectric point: 5.77  Predict pI for various phosphorylation states

Select Structure to View Below FANCC

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	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		S5	___MAQDSVDLSCDY
0	1		S57-p	EALKEMDsNTVIERF
0	1		D84	NPFILAYDESQKILI

	mouse ► Hide Isoforms
S5-p	___MAQEsADLASDC
S57	EILKEMDSDAILERF
D84	NPLILAYDESQKIVI

	FANCC iso2
S5	___MAQESADLASDC
S57	EILKEMDSDAILERF
Y84-p	NPLIFSIyESQKIVI

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